Nom anglais: Osteoarthropathy, Primary Hypertrophic
Descriptor UI:D010004
Tree Number:C16.320.718
Questions fréquentes et termes MeSH associés
Diagnostic
5
#1
Comment diagnostiquer la pachydermopériostose ?
Le diagnostic repose sur l'examen clinique, l'imagerie et des tests génétiques.
PachydermopériostoseDiagnostic médical
#2
Quels examens sont nécessaires pour le diagnostic ?
Des radiographies, une IRM et des analyses sanguines peuvent être nécessaires.
Imagerie par résonance magnétiqueRadiographie
#3
Les symptômes sont-ils suffisants pour le diagnostic ?
Non, les symptômes doivent être corroborés par des examens complémentaires.
SymptômesDiagnostic médical
#4
Y a-t-il des tests génétiques pour cette maladie ?
Oui, des tests génétiques peuvent identifier des mutations spécifiques liées à la maladie.
Tests génétiquesPachydermopériostose
#5
Le diagnostic est-il souvent tardif ?
Oui, le diagnostic peut être tardif en raison de la rareté de la maladie.
Diagnostic médicalPachydermopériostose
Symptômes
5
#1
Quels sont les symptômes principaux de la pachydermopériostose ?
Les symptômes incluent une hypertrophie des doigts, des douleurs articulaires et une peau épaissie.
SymptômesPachydermopériostose
#2
La douleur articulaire est-elle fréquente ?
Oui, la douleur articulaire est un symptôme courant et peut être invalidante.
DouleurPachydermopériostose
#3
Y a-t-il des manifestations cutanées ?
Oui, des épaississements cutanés et des nodules peuvent apparaître sur la peau.
Manifestations cutanéesPachydermopériostose
#4
Les symptômes varient-ils d'une personne à l'autre ?
Oui, l'intensité et la combinaison des symptômes peuvent varier considérablement.
Variabilité des symptômesPachydermopériostose
#5
Peut-on observer des changements osseux ?
Oui, des modifications osseuses, comme l'épaississement des os, sont fréquentes.
Changements osseuxPachydermopériostose
Prévention
5
#1
Peut-on prévenir la pachydermopériostose ?
Il n'existe pas de méthode de prévention connue en raison de sa nature génétique.
PréventionPachydermopériostose
#2
Les antécédents familiaux augmentent-ils le risque ?
Oui, des antécédents familiaux de la maladie augmentent le risque de développement.
Antécédents familiauxPachydermopériostose
#3
Des conseils génétiques sont-ils disponibles ?
Oui, des conseils génétiques peuvent aider les familles à comprendre les risques.
Conseils génétiquesPachydermopériostose
#4
Les tests de dépistage sont-ils recommandés ?
Des tests de dépistage ne sont pas généralement recommandés en raison de la rareté.
DépistagePachydermopériostose
#5
Y a-t-il des mesures de soutien pour les familles ?
Oui, des groupes de soutien peuvent aider les familles à faire face à la maladie.
Soutien familialPachydermopériostose
Traitements
5
#1
Quels traitements sont disponibles pour la pachydermopériostose ?
Les traitements incluent des anti-inflammatoires et des thérapies physiques.
TraitementPachydermopériostose
#2
Les médicaments peuvent-ils soulager la douleur ?
Oui, des analgésiques et des anti-inflammatoires peuvent aider à soulager la douleur.
AnalgésiquesPachydermopériostose
#3
La chirurgie est-elle une option de traitement ?
La chirurgie est rarement nécessaire, mais peut être envisagée pour des complications.
ChirurgiePachydermopériostose
#4
Les thérapies physiques sont-elles bénéfiques ?
Oui, la kinésithérapie peut améliorer la mobilité et réduire la douleur.
KinésithérapiePachydermopériostose
#5
Y a-t-il des traitements expérimentaux ?
Des traitements expérimentaux sont en cours d'évaluation, mais leur efficacité n'est pas prouvée.
Traitements expérimentauxPachydermopériostose
Complications
5
#1
Quelles complications peuvent survenir ?
Les complications incluent des douleurs chroniques, des déformations osseuses et des problèmes de mobilité.
ComplicationsPachydermopériostose
#2
La pachydermopériostose peut-elle entraîner des handicaps ?
Oui, la maladie peut entraîner des handicaps fonctionnels en raison de la douleur et des déformations.
HandicapPachydermopériostose
#3
Y a-t-il un risque accru d'infections ?
Le risque d'infections n'est pas directement lié à la maladie, mais à des complications chirurgicales.
InfectionsPachydermopériostose
#4
Les complications sont-elles réversibles ?
Certaines complications peuvent être gérées, mais elles ne sont pas toujours réversibles.
ComplicationsPachydermopériostose
#5
Comment gérer les complications ?
La gestion des complications nécessite une approche multidisciplinaire incluant médecins et thérapeutes.
Gestion des complicationsPachydermopériostose
Facteurs de risque
5
#1
Quels sont les facteurs de risque connus ?
Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques spécifiques.
Facteurs de risquePachydermopériostose
#2
L'âge influence-t-il le risque de développer la maladie ?
Oui, la maladie se manifeste généralement à l'adolescence ou au début de l'âge adulte.
ÂgePachydermopériostose
#3
Le sexe joue-t-il un rôle dans le risque ?
Oui, la pachydermopériostose est plus fréquente chez les hommes que chez les femmes.
SexePachydermopériostose
#4
Des facteurs environnementaux sont-ils impliqués ?
Actuellement, il n'existe pas de preuves solides liant des facteurs environnementaux à la maladie.
Facteurs environnementauxPachydermopériostose
#5
Les maladies associées augmentent-elles le risque ?
Certaines maladies génétiques peuvent coexister, mais leur impact sur le risque n'est pas clair.
Maladies génétiquesPachydermopériostose
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}
},
{
"@type": "Question",
"name": "Les maladies associées augmentent-elles le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies génétiques peuvent coexister, mais leur impact sur le risque n'est pas clair."
}
}
]
}
]
}
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China. liyue@pumch.ac.cn.
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, Hong Kong SAR, Hong Kong.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Department of Endocrinology, The First Affiliated Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Musculoskeletal Research Laboratory and Bone Quality and Health Assessment Centre, Department of Orthopedics & Traumatology, The Chinese University of Hong Kong, Hong Kong SAR, Hong Kong.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2023-05-18
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1, Shuaifuyuan, Beijing, 100730, China.
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2019-10-23
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2019-10-23
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, 100730, China.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
2019-10-23
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Dongcheng District, Beijing 100730, China.
Chronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1, which encodes the prostaglandin transporter (PGT). CEAS follows an autosomal recessive inheri...
We performed whole exome sequencing (WES) to screen for potential pathogenic variants in a patient suspected of having CEAS, and confirmed a variant in SLCO2A1 using Sanger sequencing. We established ...
The patient had a novel, homozygous, recessive c.929A > G variant in exon 7 of SLCO2A1, which has not been previously reported in CEAS or PHO. This variant altered splicing, resulting in an exon 7-tru...
A previously unreported variant caused defective SLCO2A1 splicing and reduced mRNA levels in a patient with CEAS and PHO. This research enhances understanding of CEAS and PHO pathophysiology and aids ...
Paraneoplastic rheumatologic syndromes encompass a range of clinical conditions that mimic primary rheumatic diseases and occur in the context of malignancy. Hypertrophic osteoarthropathy (HOA) is a n...
Hypertrophic osteoarthropathy is a paraneoplastic syndrome and is considered an important secondary cause of rheumatic disease. It typically manifests as tibial and femoral bone pain, with arthralgia ...
The role of bisphosphonates (BP) in hypertrophic osteoarthropathy (HPOA) is unclear. We presented a case of primary HPOA and performed a systematic review of literature on the effect of BP on treatmen...
The study was prospectively registered in PROSPERO (CRD42022343786). We performed a PubMed literature search that restricted to the English language. We included patients diagnosed with primary or sec...
Literature search retrieved only case reports. Forty-five patients (21 primary, 24 secondary HPOA) had received BP. Majority(88.3%) experienced improvement in pain or arthritis. Response was gradual f...
Bisphosphonates provide an effective and safe treatment option for primary and secondary HPOA. However, there is a lack of randomized controlled trials....
We report a case of a 66 year-old male with recurrent stage IIIA non-small cell lung cancer (NSCLC) and no prior arthritis or bone disease who developed hypertrophic osteoarthropathy (HOA) prior to im...
Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gen...
This study aims to provide a detailed evaluation of a case of secondary hypertrophic osteoarthropathy (HOA) and to explore insights into the presence and consequences of disease in medieval rural Ital...
The skeleton of a male (US 4405) with an estimated age at death of 51-69 years excavated from the medieval rural site of Pieve di Pava (Siena, Italy)....
Macroscopic and radiological (x-ray, CT) analyses were performed....
Symmetrical extensive periosteal new bone formation on the diaphyseal and metaphyseal regions of this individual's long bones; the lower limbs were more extensively and severely affected than the uppe...
The macroscopic and radiological features are highly consistent with a diagnosis of secondary HOA....
The excellent state of preservation allowed the evaluation of rarely noted skeletal manifestations of HOA and provided insight into aspects of rural life in medieval Italy....
Molecular analysis was not successful in sequencing the aDNA of tuberculosis, therefore the underlying primary cause of secondary HOA, whether pulmonary or extrapulmonary, remains obscure in this case...
It is advisable to regularly revisit the data available from osteoarchaeological collections in order to identify further cases of HOA, along with to further investigate the known cases to search for ...
Hypertrophic osteoarthropathy (HOA) is a rare and intricate hereditary disease. The appearance and functional deformity of the forehead caused by thickened folds are the main clinical manifestations o...
All cases of hypertrophic osteoarthropathy in our department in the last 7 years, and previous literature on hypertrophic osteoarthropathy, were reviewed....
A total of 5 cases of hypertrophic osteoarthropathy in our department (mean age 21 years, all male patients) were reviewed. All patients underwent open surgery to remove the thickened skin on the fore...
A total of 5 cases of hypertrophic osteoarthropathy were treated in our department, and all of them underwent frontal skin "W"-shaped excision, which was safe, feasible, and practical, and the postope...
This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Inst...
Hypertrophic cardiomyopathy (HCM) is known to be the most prevalent genetic cardiac condition. However, there have been limited reports on the diagnosis of HCM accompanied by secondary hypertension an...
Rheumatoid arthritis (RA) is an autoimmune disease.However, there are few cases of Charcot Neuro-osteoarthropathy (CN) caused by rheumatoid diseases in clinical reports. It is not easy to pay attentio...
The patient, a 79-year-old woman, was hospitalized due to bilateral shoulder pain, limited activity for half a year, aggravated for 4 months to the hospital. During this period, the symptoms did not i...
symmetrical malformed swelling of the finger joints of both hands; Bilateral supraspinatus and deltoid muscle atrophy, tenderness at the acromion, and attachment of the long head tendon of the biceps ...